ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.2149G>A (p.Val717Met) (rs61753359)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080120 SCV000219116 likely benign Charcot-Marie-Tooth disease type 4 2019-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000727143 SCV000292552 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FGD4 gene. The V717M variant has not been published in association with neuropathy, to our knowledge. The V717M variant is observed in 254/126474 (0.2%) alleles from individuals of European background, including multiple unrelated homozygous individuals in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000236955 SCV000603702 uncertain significance not specified 2017-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000236955 SCV000613275 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727143 SCV000706120 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727143 SCV000892022 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001114409 SCV001272289 uncertain significance Charcot-Marie-Tooth disease, type 4H 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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